PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
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| Title: | PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. |
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| Authors: | Bownass L; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Abbs S; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Baujat G; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France., Behzadi G; Department of Radiology, Stavanger University Hospital, Stavanger, Norway., Berentsen RD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Burren C; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Calder A; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Cormier-Daire V; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France., Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Foulds N; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK., Juliusson PB; Department of Health Registries, Norwegian Institute of Public Health, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Paediatrics, Haukeland University Hospital, Bergen, Norway., Kant SG; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Mehta SG; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, Norway., Michot C; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France., Monsell F; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Offiah AC; University of Sheffield, Academic Unit of Child Health, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Richards A; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Rosendahl K; Section of Paediatric Radiology, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Medicine, University of Bergen, Bergen, Norway., Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Wellesley D; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK., Wordsworth P; Nuffield Orthopaedic Centre, Oxford, UK., Smithson S; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. |
| Corporate Authors: | Deciphering Developmental Disorders Study; Wellcome Sanger Institute, Cambridge, UK. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1884-1894. Date of Electronic Publication: 2019 Jul 16. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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